ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6331G>T (p.Glu2111Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004648385 SCV005153377 pathogenic Inborn genetic diseases 2024-06-12 criteria provided, single submitter clinical testing The c.6331G>T (p.E2111*) alteration, located in exon 15 (coding exon 15) of the PKD1 gene, consists of a G to T substitution at nucleotide position 6331. This changes the amino acid from a glutamic acid (E) to a stop codon at amino acid position 2111. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on the available evidence, this alteration is classified as pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005015228 SCV005641323 likely pathogenic Polycystic kidney disease, adult type 2024-02-10 criteria provided, single submitter clinical testing

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